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Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis

This study is enrolling participants by invitation only.
Information provided by (Responsible Party):
William E. Haley, M.D., Mayo Clinic Identifier:
First received: May 20, 2010
Last updated: February 12, 2016
Last verified: February 2016
Recent investigations from this group have identified that genetic variants of genes associated with monogenic forms of nephrolithiasis are expressed in idiopathic calcium oxalate kidney stone patients and could influence stone forming risk. Utilizing patient samples from the Mayo Clinic Florida Kidney Stone Registry, we will demonstrate that expression of these heterozygous mutations in idiopathic nephrolithiasis act as genetic modifiers of disease presentation increasing risk of kidney stone formation. Complimented by the analysis of environmental and lifestyle risk factors, these studies will define environmental and genetic susceptibility factors involved in kidney stone formation and reoccurrence.

Kidney Stones
Calcium Oxalate Urolithiasis

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis

Resource links provided by NLM:

Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • To identify the frequency of known genetic variants associated with monogenic forms of nephrolithiasis within idiopathic stone forming populations and associate their presence with heightened risk. [ Time Frame: December 2016 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA
Blood, Urine and DNA

Enrollment: 900
Study Start Date: December 2009
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)

  Show Detailed Description


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Mayo Clinic in Jacksonville, FL

Inclusion Criteria:


  • History of calcium oxalate stones
  • 18 years of age or older
  • Willing to provide a blood sample, one 24-hour urine collection and questionnaire


  • 18 years of age or older
  • No personal history of urolithiasis
  • Willing to provide a blood sample

Exclusion Criteria:


  • Secondary causes of urolithiasis including: Bowel disease, Renal tubular acidosis, hyperparathyroidism
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01127854

United States, Florida
Mayo Clinic
Jacksonville, Florida, United States, 32224
Sponsors and Collaborators
Mayo Clinic
Principal Investigator: William E Haley, MD Mayo Clinic
  More Information

Responsible Party: William E. Haley, M.D., PI, Mayo Clinic Identifier: NCT01127854     History of Changes
Other Study ID Numbers: 09-007826 
Study First Received: May 20, 2010
Last Updated: February 12, 2016
Health Authority: United States: Institutional Review Board

Keywords provided by Mayo Clinic:
kidney stone
calcium oxalate kidney stone
calcium oxalate stone
calcium oxalate

Additional relevant MeSH terms:
Kidney Calculi
Kidney Diseases
Urologic Diseases
Urinary Calculi
Pathological Conditions, Anatomical processed this record on December 02, 2016